NM_000243.3:c.1437C>G

HGVS Expressions

  • NG_007871.1:g.14462C>G
  • NM_000243.3:c.1437C>G
  • NP_000234.1:p.Phe479Leu
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Genomic Location

chr16:3247166

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

2545

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.1.2Jordan11.2%PathogenicFamilial Mediterranean FeverMedlej-Hashim et al, 2000
249100.3.3Jordan1PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2005
249100.G.1.7Lebanon62.9%PathogenicFamilial Mediterranean FeverSabbagh et al, 2008 Group of patients including 1 homozygote...
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